Search for intracranial aneurysm susceptibility gene(s) using Finnish families

BACKGROUND: Cerebrovascular disease is the third leading cause of death in the United States, and about one-fourth of cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence suggests that IAs cluster in families, and are therefore probably genetic. Identification of individuals at risk for developing IAs by genetic tests will allow concentration of diagnostic imaging on high-risk individuals. We used model-free linkage analysis based on allele sharing with a two-stage design for a genome-wide scan to identify chromosomal regions that may harbor IA loci. METHODS: We previously estimated sibling relative risk in the Finnish population at between 9 and 16, and proceeded with a genome-wide scan for loci predisposing to IA. In 85 Finnish families with two or more affected members, 48 affected sibling pairs (ASPs) were available for our genetic study. Power calculations indicated that 48 ASPs were adequate to identify chromosomal regions likely to harbor predisposing genes and that a liberal stage I lod score threshold of 0.8 provided a reasonable balance between detection of false positive regions and failure to detect real loci with moderate effect. RESULTS: Seven chromosomal regions exceeded the stage I lod score threshold of 0.8 and five exceeded 1.0. The most significant region, on chromosome 19q, had a maximum multipoint lod score (MLS) of 2.6. CONCLUSIONS: Our study provides evidence for the locations of genes predisposing to IA. Further studies are necessary to elucidate the genes and their role in the pathophysiology of IA, and to design genetic tests

Extremes on the discounted aggregate claims in a time dependent risk model

This paper presents an extension of the classical compound Poisson risk model for which the inter-claim time and the forthcoming claim amount are no longer independent random variables (rv's). Asymptotic tail probabilities for the discounted aggregate claims are presented when the force of interest is constant and the claim amounts are heavy tail distributed rv's. Furthermore, we derive asymptotic finite time ruin probabilities, as well as asymptotic approximations for some common risk measures associated with the discounted aggregate claims. A simulation study is performed in order to validate the results obtained in the free interest risk model

Me, Myself, and My Thoughts: The Influence of Brooding and Reflective Rumination on Depressive Symptoms in Athletes in the United Kingdom

Individual differences in vulnerability to depression are still underexplored in athletes. We tested the influence of different brooding and reflective rumination profiles (i.e. repetitive thought processes in response to low/depressed mood) on the odds of experiencing clinically relevant depressive symptoms in competitive athletes (N=286). The Patient Health Questionnaire 9 (PHQ – 9) and the Ruminative Responses Scale (RRS-short form) were utilized to measure depression and rumination, respectively. Compared to athletes with a low brooding/reflection profile, athletes with a high brooding/reflection profile had significantly higher odds of experiencing clinical levels of depressive symptoms (OR=13.40, 95% CI=3.81– 47.11). A high reflection/low brooding profile was not, however, related to increased odds of depressive symptoms. Future research could extend our findings by exploring determinants of ruminative tendencies, especially brooding, in athletes. Furthermore, psychological interventions targeting rumination could be examined as a potential prevention and treatment approach to tackling depressive symptoms in athletes

A Qualitative Meta-Study of a Decade of the Holistic Ecological Approach to Talent Development

The Holistic-Ecological Approach (HEA) was introduced in 2010, and it is now important to provide a critical review after a decade of research elaborating on the framework. The purpose of this study was to critically assess the methodological and theoretical trends in research using the HEA in the study of athletic talent development environments (ATDE). We used a qualitative meta-study to review twelve studies published from 2010 to the first quarter of 2021. Our meta-theory analysis found that future studies should consider the use of Bronfenbrenner’s work on development and address previous critiques on its use since it can limit the potential of the HEA re-search. In the meta-methods, we found that all studies used multiple and varied data collection strategies (e.g., interviews, observations, organisational documents). We also found a high degree of transparency and rigour exemplified by using multiple validity strategies. Method weaknesses were an underrepresentation of neutral or negative cases. The meta-data analysis showed that most ATDEs were classified as successful or unsuccessful ahead of data collection, suggesting potential confirmation bias. We also found that all ATDEs had competing findings, which suggests a need for exploring negative or ambiguous findings. Future research could benefit from clarifying the use of underlying theoretical assumptions; contrasting findings with neutral cases, outliers, and negative cases to clarify the definition of successful ATDEs; and expanding on the methodological approach

Diabetes hospitalizations and deaths in a cohort of treatment-seeking illicit drug users

BACKGROUND: Studies on diabetes among illicit drug users are scarce in Finland. This study aimed to describe hospitalization and death due to diabetes among treatment-seeking illicit drug users. METHODS: Information of 4817 treatment-seeking drug users (3365 men and 1452 women) aged 11-65 years (mean 24.5 years) was linked to the Finnish national hospital discharge register and the national death registry to identify those clients who were hospitalized or died from diabetes mellitus during 1997-2013. RESULTS: Fifty-three persons (42 men and 11 women) had primary diagnoses of diabetes, with a total of 146 hospitalizations (121 among men and 25 among women). The total length of stay among men (1183 days) far exceeded those of women (138 days). Overall, type 1 diabetes was the main contributor to hospitalizations (67%, n = 98/146). The proportion of Type 1 diabetes with complications was 31% in men (n = 37/121) and 44% in women (n = 11/25). All cases of deaths due to diabetes (n = 7) occurred in men. CONCLUSION: Diabetes hospitalizations were mainly due to Type 1 diabetes. Longer length of hospital stay was observed in men, and all diabetes deaths occurred among men. Male drug users and drug users in general would require more support to reduce morbidity and mortality due to diabetes

Association between route of illicit drug administration and hospitalizations for infective endocarditis

Objective: This study examined the association between the route of drug administration and being hospitalized for infective endocarditis among 4817 treatment-seeking illicit drug users in Finland. Methods: Cox regression models were used to examine the association between the route of drug administration and infective endocarditis hospitalization, adjusted for age, gender, and homelessness. Cases of infective endocarditis as a primary/main diagnosis were tracked using the 10th version of the International Classification of Disease code I33. Results: In all, 47 persons had a primary diagnosis of infective endocarditis. These 47 persons contributed a total of 95 hospitalizations and their total length of hospital stay was 1393 days. There was a statistically significant difference in hospitalizations between injectors and non-injectors (Log-Rank test p = 0.018). Univariate Cox model showed that injectors had higher hazard or risk for infective endocarditis hospitalization compared to non-injectors (hazard ratio: 2.04, 95% confidence interval: 1.12–3.73, p = 0.020). After adjusting for age, gender, and homelessness in the multivariate model, the elevated hazard among injectors compared to non-injectors remained statistically significant with adjusted hazard ratio of 2.12 (95% confidence interval: 1.11–4.07, p = 0.024). Conclusion: The study findings suggested a need to boost harm reduction measures targeting high-risk injecting and other health behaviors among injecting drug users in order to reduce their hospitalizations for infective endocarditis

Cosmological Backreaction from Perturbations

We reformulate the averaged Einstein equations in a form suitable for use with Newtonian gauge linear perturbation theory and track the size of the modifications to standard Robertson-Walker evolution on the largest scales as a function of redshift for both Einstein de-Sitter and Lambda CDM cosmologies. In both cases the effective energy density arising from linear perturbations is of the order of 10^-5 the matter density, as would be expected, with an effective equation of state w ~ -1/19. Employing a modified Halofit code to extend our results to quasilinear scales, we find that, while larger, the deviations from Robertson-Walker behaviour remain of the order of 10^-5.Comment: 15 pages, 8 figures; replaced by version accepted by JCA

Подростки-спортсмены строят двойную карьеру и благополучие в условиях двойного карьерного роста: роль факторов окружающей среды

Рукопись поступила в редакцию: 20.12.2021.Received: 20.12.2021.Цель исследования заключалась в изучении карьерного роста и благополучия спортсменов-подростков в условиях двойного карьерного роста. В исследовании выявлены особенности адаптивности к карьере в старших классах спортивной школы. В статье представлены данные относительно того, в какой степени самооценка и пол связаны с адаптивностью к двойной карьере, определены профили адаптации к карьере спортсменов-подростков, выявлены как ожидания студентов-спортсменов в зависимости от их успехов в спорте и учебе и соответствующие ожидания их родителей связаны с их профилями адаптации к карьере. Получены новые данные относительно того, как организационная культура спортивной школы влияет на построение карьеры спортсменов-подростков.The purpose of the scientific research was to study the career growth and well-being of adolescent athletes in conditions of dual career growth. The study revealed the features of adaptability to a career in high school of sports school. The article presents data on the extent to which self-esteem and gender are associated with adaptability to a dual career, the profiles of adaptation to the career of adolescent athletes have been defined, it is also revealed how the expectations of student-athletes depending on their success in sports and studies and the corresponding expectations of their parents are associated with their profiles of adaptation to a career. The new data on how the organizational culture of a sports school affects the career development of teenage athletes have been obtained

Doubtful outcome of the validation of the Rome II questionnaire: validation of a symptom based diagnostic tool

<p>Abstract</p> <p>Background</p> <p>Questionnaires are used in research and clinical practice. For gastrointestinal complaints the Rome II questionnaire is internationally known but not validated. The aim of this study was to validate a printed and a computerized version of Rome II, translated into Swedish. Results from various analyses are reported.</p> <p>Methods</p> <p>Volunteers from a population based colonoscopy study were included (n = 1011), together with patients seeking general practice (n = 45) and patients visiting a gastrointestinal specialists' clinic (n = 67). The questionnaire consists of 38 questions concerning gastrointestinal symptoms and complaints. Diagnoses are made after a special code. Our validation included analyses of the translation, feasibility, predictability, reproducibility and reliability. Kappa values and overall agreement were measured. The factor structures were confirmed using a principal component analysis and Cronbach's alpha was used to test the internal consistency.</p> <p>Results and Discussion</p> <p>Translation and back translation showed good agreement. The questionnaire was easy to understand and use. The reproducibility test showed kappa values of 0.60 for GERS, 0.52 for FD, and 0.47 for IBS. Kappa values and overall agreement for the predictability when the diagnoses by the questionnaire were compared to the diagnoses by the clinician were 0.26 and 90% for GERS, 0.18 and 85% for FD, and 0.49 and 86% for IBS. Corresponding figures for the agreement between the printed and the digital version were 0.50 and 92% for GERS, 0.64 and 95% for FD, and 0.76 and 95% for IBS. Cronbach's alpha coefficient for GERS was 0.75 with a span per item of 0.71 to 0.76. For FD the figures were 0.68 and 0.54 to 0.70 and for IBS 0.61 and 0.56 to 0.66. The Rome II questionnaire has never been thoroughly validated before even if diagnoses made by the Rome criteria have been compared to diagnoses made in clinical practice.</p> <p>Conclusion</p> <p>The accuracy of the Swedish version of the Rome II is of doubtful value for clinical practice and research. The results for reproducibility and reliability were acceptable but the outcome of the predictability test was poor with IBS as an exception. The agreement between the digital and the paper questionnaire was good.</p

Evaluation of neuroendocrine markers in renal cell carcinoma

<p>Abstract</p> <p>Background</p> <p>The purpose of the study was to examine serotonin, CD56, neurone-specific enolase (NSE), chromogranin A and synaptophysin by immunohistochemistry in renal cell carcinomas (RCCs) with special emphasis on patient outcome.</p> <p>Methods</p> <p>We studied 152 patients with primary RCCs who underwent surgery for the removal of kidney tumours between 1990 and 1999. The mean follow-up was 90 months. The expression of neuroendocrine (NE) markers was determined by immunohistochemical staining using commercially available monoclonal antibodies. Results were correlated with patient age, clinical stage, Fuhrman grade and patient outcome.</p> <p>Results</p> <p>Eight percent of tumours were positive for serotonin, 18% for CD56 and 48% for NSE. Chromogranin A immunostaining was negative and only 1% of the tumours were synaptophysin immunopositive. The NSE immunopositivity was more common in clear cell RCCs than in other subtypes (<it>p </it>= 0.01). The other NE markers did not show any association with the histological subtype. Tumours with an immunopositivity for serotonin had a longer RCC-specific survival and tumours with an immunopositivity for CD56 and NSE had a shorter RCC-specific survival but the difference was not significant. There was no relationship between stage or Fuhrman grade and immunoreactivity for serotonin, CD56 and NSE.</p> <p>Conclusions</p> <p>Serotonin, CD56 and NSE but not synaptophysin and chromogranin A are expressed in RCCs. However, the prognostic potential of these markers remains obscure.</p